DNMT1

DNA methyltransferase 1
OMIM: 126375, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green DNMT1 in Kleine-Levin syndrome Level 3: Sleep disorders Level 2: Neurology and neurodevelopmental disorders Version 1.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory, type IE, 614116 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT ADCADN
Red DNMT1 in Familial dysautonomia Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Neuropathy, hereditary sensory, type IE 614116
Green DNMT1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.84	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Dementia, Deafness, and Sensory Neuropathy
Green DNMT1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Green DNMT1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Green DNMT1 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 Neuropathy, hereditary sensory, type IE, 614116 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT ADCADN
Green DNMT1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121
Green DNMT1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Phenotypes Neuropathy, hereditary sensory, type IE, 614116 Neuropathy, hereditary sensory, type IE, 614116 Dementia, Deafness, and Sensory Neuropathy
Green DNMT1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes hearing loss Dementia, Deafness, and Sensory Neuropathy Neuropathy, hereditary sensory, type IE, 614116 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
Red DNMT1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant Neuropathy, hereditary sensory, type IE
Green DNMT1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Cerebellar ataxia, deafness and narcolepsy, 604121 Hereditary sensory neuropathy type IE, 614116
Green DNMT1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Dementia, Deafness, and Sensory Neuropathy Neuropathy, hereditary sensory, type IE, 614116
Red DNMT1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH